Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.160 | 7 | 39686740 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
54 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.851 | 0.200 | 2 | 219568211 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.882 | 0.040 | 15 | 75411651 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
29 | 0.752 | 0.320 | 22 | 30946373 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 2 | 199308845 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
29 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
58 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
37 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 12 | 48916993 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
5 | 0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
23 | 0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | X | 72490973 | missense variant | A/C;T | snv | 0.700 | 0 | |||||||||
|
5 | 0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.080 | 6 | 50836108 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
24 | 0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv | 0.700 | 0 |